Canonical Allele Identifier: CA396558350

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70259157G>T , CM000678.2:g.70259157G>T	GRCh38
NC_000016.9:g.70293060G>T , CM000678.1:g.70293060G>T	GRCh37
NC_000016.8:g.68850561G>T	NCBI36
NG_023191.1:g.35353C>A , LRG_359:g.35353C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.1815C>A MANE Select	NP_001596.2:p.His605Gln
ENST00000261772.13:c.1815C>A MANE Select	ENSP00000261772.8:p.His605Gln
NM_001605.2:c.1815C>A , LRG_359t1:c.1815C>A	NP_001596.2:p.His605Gln
ENST00000261772.12:c.1815C>A	ENSP00000261772.7:p.His605Gln
ENST00000564359.5:n.311C>A
ENST00000564359.6:n.1973C>A
ENST00000565361.2:c.160C>A
ENST00000565361.3:c.1815C>A	ENSP00000455360.3:p.His605Gln
ENST00000567490.1:n.400C>A
ENST00000569790.2:n.407C>A
ENST00000674512.1:c.1794C>A	ENSP00000501613.1:p.His598Gln
ENST00000674652.1:c.*842C>A	ENSP00000502620.1:n.*842C>A
ENST00000674691.1:c.1815C>A	ENSP00000502247.1:p.His605Gln
ENST00000674768.1:c.*70C>A	ENSP00000501679.1:n.*70C>A
ENST00000674811.1:c.*8C>A	ENSP00000502055.1:n.*8C>A
ENST00000674848.1:n.1864C>A
ENST00000674962.1:n.1973C>A
ENST00000674963.1:c.1815C>A	ENSP00000501924.1:p.His605Gln
ENST00000675035.1:c.1815C>A	ENSP00000502712.1:p.His605Gln
ENST00000675045.1:c.1815C>A	ENSP00000502014.1:p.His605Gln
ENST00000675120.1:c.*125C>A	ENSP00000502823.1:n.*125C>A
ENST00000675133.1:c.1788C>A	ENSP00000502230.1:p.His596Gln
ENST00000675270.1:n.1950C>A
ENST00000675297.1:c.*167C>A	ENSP00000502753.1:n.*167C>A
ENST00000675371.1:c.1815C>A	ENSP00000502645.1:p.His605Gln
ENST00000675403.1:n.1973C>A
ENST00000675569.1:c.*1049C>A	ENSP00000502534.1:n.*1049C>A
ENST00000675643.1:c.1815C>A	ENSP00000502797.1:p.His605Gln
ENST00000675691.1:c.1686C>A	ENSP00000502196.1:p.His562Gln
ENST00000675751.1:c.*842C>A	ENSP00000502277.1:n.*842C>A
ENST00000675853.1:c.1815C>A	ENSP00000502367.1:p.His605Gln
ENST00000675917.1:n.2112C>A
ENST00000675953.1:c.1731C>A	ENSP00000502321.1:p.His577Gln
ENST00000675986.1:n.1973C>A
ENST00000676004.1:c.*1814C>A	ENSP00000502765.1:n.*1814C>A
ENST00000676040.1:c.*1049C>A	ENSP00000502108.1:n.*1049C>A
ENST00000676168.1:c.1815C>A	ENSP00000502479.1:p.His605Gln
ENST00000676209.1:c.*167C>A	ENSP00000502052.1:n.*167C>A
ENST00000676211.1:c.*842C>A	ENSP00000502726.1:n.*842C>A
ENST00000676212.1:c.1815C>A	ENSP00000501853.1:p.His605Gln
ENST00000676247.1:c.*167C>A	ENSP00000502699.1:n.*167C>A
XR_933220.1:n.1966C>A
XR_933220.3:n.1925C>A